Researchers in Hull have joined one of the world’s leading genetic screening studies for newborn babies.
A team based at Hull Royal Infirmary, led by obstetrics and gynaecology consultant and principal investigator, Dr Uma Rajesh, will join more than 40 other NHS Trusts and organisations in recruiting to the Generation Study, led by Genomics England in partnership with NHS England.
This pioneering study seeks to screen newborn babies for more than 200 rare genetic conditions by offering whole genome sequencing using blood samples normally taken from the umbilical cord shortly after birth.
The aim is to identify conditions such as spinal muscular atrophy and metachromatic leukodystrophy (MLD) in babies sooner, through screening 100,000 study participants.
Hundreds could also benefit from earlier diagnosis and treatment that could help slow the progression of disease and improve or even extend their lives.
The sequencing identifies treatable, rare conditions shortly after a baby is born rather than when symptoms might appear later in childhood. This means families can access the right support, monitoring, and treatment from the NHS much earlier for these conditions. In turn, effective early intervention can help to prevent longer term health problems associated with certain conditions, keeping children out of hospital, and helping them live healthier lives.
Dr Uma Rajesh, principal investigator for the Generation Study in Hull says:
“Taking part in the Generation Study gives local people the chance to access potentially life-changing information about their baby’s health at a very early stage. We know that babies’ health is one of the top priorities for new and expectant parents, so parents-to-be will now be made aware of the study during pregnancy and, if interested, will be offered a follow-up discussion with a research midwife for more details.
“Participation is entirely voluntary, but the study brings the potential to help some families identify issues and begin treatment much earlier on in the baby’s life.
“For our research team, being given the opportunity to take part in such a high-profile and world-leading study is a real privilege. We’re keen to give local people – both staff and professionals – the opportunity to represent our region and input into such an important and potentially life-changing study, but we also want families to benefit from its outcomes and to help give children the best possible start in life.”
If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS.
Every year, thousands of children are born in the UK with a treatable rare condition with genetic testing usually taking place in the NHS Genomic Medicine Service when the child has developed symptoms – with children under the age of 5 disproportionately affected.
The existing NHS blood spot screening (the heel prick test) is used to detect 910 rare but serious health conditions in newborn babies. The Generation Study is not intended to replace this routine screening, and it is important that whatever decision parents make about participation in the Generation Study, their baby still has the blood spot test.
It is hoped that screening babies’ entire genomes – all of their DNA – could detect hundreds more rare, treatable diseases in their first years of life.
NHS teams will also provide families with advice on how to manage different conditions, for example for one of the conditions, osteogenesis imperfecta, parents can be advised on handling of their newborn to prevent long-term damage to their child’s bones.
The study will also support broader healthcare research to improve testing and discover more treatments and explore the potential of storing an individual genome over a person’s lifetime and using it to help predict, diagnose and treat future illnesses.